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Telangiectasia of the skin

MedGen UID:
867629
Concept ID:
C4022018
Finding
Synonyms: Telangiectasia of skin; Teleangiectasia of the skin
SNOMED CT: Telangiectasia of skin (1197432002)
 
HPO: HP:0100585

Definition

Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. [from HPO]

Conditions with this feature

Kindler syndrome
MedGen UID:
96060
Concept ID:
C0406557
Disease or Syndrome
Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent during childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis. Other mucosal findings can include ectropion, urethral stenosis, and severe phimosis. Severe long-term complications of KS include periodontitis, mucosal strictures, and aggressive squamous cell carcinomas. Manifestations can range from mild to severe.
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
MedGen UID:
162901
Concept ID:
C0796031
Disease or Syndrome
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
Mandibular hypoplasia-deafness-progeroid syndrome
MedGen UID:
811623
Concept ID:
C3715192
Disease or Syndrome
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by Weedon et al., 2013).
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
MedGen UID:
863379
Concept ID:
C4014942
Disease or Syndrome
CAGSSS, which comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, is an autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. Not all of these features are always present, and almost all the features may present at different times and/or become more apparent with age. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD) (summary by Vona et al., 2018). One family had a distinctive presentation with infantile-onset intractable seizures and cortical abnormalities reminiscent of Leigh syndrome (see 256000). The correlation between genotype and phenotype remains unclear, but since the IARS2 gene is involved in mitochondrial function, heterogeneous manifestations can be expected (Takezawa et al., 2018).
Telangiectasia, hereditary hemorrhagic, type 1
MedGen UID:
1643786
Concept ID:
C4551861
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.

Professional guidelines

PubMed

Sharma A, Kroumpouzos G, Kassir M, Galadari H, Goren A, Grabbe S, Goldust M
J Cosmet Dermatol 2022 May;21(5):1895-1904. Epub 2022 Feb 14 doi: 10.1111/jocd.14816. PMID: 35104917
van Zuuren EJ, Arents BWM, van der Linden MMD, Vermeulen S, Fedorowicz Z, Tan J
Am J Clin Dermatol 2021 Jul;22(4):457-465. Epub 2021 Mar 23 doi: 10.1007/s40257-021-00595-7. PMID: 33759078Free PMC Article
van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, Matucci-Cerinic M, Naden RP, Medsger TA Jr, Carreira PE, Riemekasten G, Clements PJ, Denton CP, Distler O, Allanore Y, Furst DE, Gabrielli A, Mayes MD, van Laar JM, Seibold JR, Czirjak L, Steen VD, Inanc M, Kowal-Bielecka O, Müller-Ladner U, Valentini G, Veale DJ, Vonk MC, Walker UA, Chung L, Collier DH, Ellen Csuka M, Fessler BJ, Guiducci S, Herrick A, Hsu VM, Jimenez S, Kahaleh B, Merkel PA, Sierakowski S, Silver RM, Simms RW, Varga J, Pope JE
Ann Rheum Dis 2013 Nov;72(11):1747-55. doi: 10.1136/annrheumdis-2013-204424. PMID: 24092682

Recent clinical studies

Etiology

Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Sales AFS, Pandolfo IL, de Almeida Cruz M, Parisi JR, Garcia LA, Martignago CCS, Renno ACM, Vassão PG
Arch Dermatol Res 2022 Nov;314(9):823-838. Epub 2021 Oct 5 doi: 10.1007/s00403-021-02283-2. PMID: 34609598
Levi A, Shechter R, Lapidoth M, Enk CD
Dermatology 2017;233(5):390-395. Epub 2017 Dec 7 doi: 10.1159/000481855. PMID: 29212071
Riahi RR, Bush AE, Cohen PR
Am J Clin Dermatol 2016 Jun;17(3):265-76. doi: 10.1007/s40257-016-0185-5. PMID: 26969582
van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, Matucci-Cerinic M, Naden RP, Medsger TA Jr, Carreira PE, Riemekasten G, Clements PJ, Denton CP, Distler O, Allanore Y, Furst DE, Gabrielli A, Mayes MD, van Laar JM, Seibold JR, Czirjak L, Steen VD, Inanc M, Kowal-Bielecka O, Müller-Ladner U, Valentini G, Veale DJ, Vonk MC, Walker UA, Chung L, Collier DH, Ellen Csuka M, Fessler BJ, Guiducci S, Herrick A, Hsu VM, Jimenez S, Kahaleh B, Merkel PA, Sierakowski S, Silver RM, Simms RW, Varga J, Pope JE
Ann Rheum Dis 2013 Nov;72(11):1747-55. doi: 10.1136/annrheumdis-2013-204424. PMID: 24092682

Diagnosis

Stavrou C, Uthayakumar A, Calonje JE, Bunker CB
BMJ Case Rep 2021 Mar 23;14(3) doi: 10.1136/bcr-2020-241434. PMID: 33758051Free PMC Article
Mangkorntongsakul V, Forsyth CJ
Med J Aust 2019 Jan;210(1):16-16.e1. Epub 2018 Dec 16 doi: 10.5694/mja2.12042. PMID: 30636306
Gontijo B
Clin Dermatol 2014 Jul-Aug;32(4):471-6. Epub 2014 Feb 28 doi: 10.1016/j.clindermatol.2014.02.002. PMID: 25017458
van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, Matucci-Cerinic M, Naden RP, Medsger TA Jr, Carreira PE, Riemekasten G, Clements PJ, Denton CP, Distler O, Allanore Y, Furst DE, Gabrielli A, Mayes MD, van Laar JM, Seibold JR, Czirjak L, Steen VD, Inanc M, Kowal-Bielecka O, Müller-Ladner U, Valentini G, Veale DJ, Vonk MC, Walker UA, Chung L, Collier DH, Ellen Csuka M, Fessler BJ, Guiducci S, Herrick A, Hsu VM, Jimenez S, Kahaleh B, Merkel PA, Sierakowski S, Silver RM, Simms RW, Varga J, Pope JE
Ann Rheum Dis 2013 Nov;72(11):1747-55. doi: 10.1136/annrheumdis-2013-204424. PMID: 24092682
Perlstein MA, Perlstein MO
Pediatr Clin North Am 1967 Nov;14(4):933-48. doi: 10.1016/s0031-3955(16)32065-x. PMID: 4970013

Therapy

Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Sharma A, Kroumpouzos G, Kassir M, Galadari H, Goren A, Grabbe S, Goldust M
J Cosmet Dermatol 2022 May;21(5):1895-1904. Epub 2022 Feb 14 doi: 10.1111/jocd.14816. PMID: 35104917
Gu Y, Han J, Jiang C, Zhang Y
Ageing Res Rev 2020 May;59:101036. Epub 2020 Feb 24 doi: 10.1016/j.arr.2020.101036. PMID: 32105850
Kulkin JM, Flash S
Obstet Gynecol Clin North Am 2010 Dec;37(4):501-6, vii. doi: 10.1016/j.ogc.2010.09.001. PMID: 21093745
Wilkin JK
Arch Dermatol 1980 May;116(5):584. PMID: 6445709

Prognosis

Cohen BA, Turcios NL
Pediatr Clin North Am 2021 Feb;68(1):261-276. doi: 10.1016/j.pcl.2020.09.009. PMID: 33228937
Harb JN, Carstens SJ, Motaparthi K
JAMA Dermatol 2018 Feb 1;154(2):209-210. doi: 10.1001/jamadermatol.2017.3748. PMID: 29049459
Gontijo B
Clin Dermatol 2014 Jul-Aug;32(4):471-6. Epub 2014 Feb 28 doi: 10.1016/j.clindermatol.2014.02.002. PMID: 25017458
Lima Lde A, Haddad Nde C, Lima RB, D'Acri AM, Martins CJ
An Bras Dermatol 2014 May-Jun;89(3):521-2. doi: 10.1590/abd1806-4841.20142863. PMID: 24937836Free PMC Article
Rothe MJ, Grant-Kels JM
Int J Dermatol 1992 May;31(5):320. doi: 10.1111/j.1365-4362.1992.tb03945.x. PMID: 1587658

Clinical prediction guides

Lescoat A, Huang S, Carreira PE, Siegert E, de Vries-Bouwstra J, Distler JHW, Smith V, Del Galdo F, Anic B, Damjanov N, Rednic S, Ribi C, Bancel DF, Hoffmann-Vold AM, Gabrielli A, Distler O, Khanna D, Allanore Y; EUSTAR collaborators
JAMA Dermatol 2023 Aug 1;159(8):837-847. doi: 10.1001/jamadermatol.2023.1729. PMID: 37378994Free PMC Article
Sales AFS, Pandolfo IL, de Almeida Cruz M, Parisi JR, Garcia LA, Martignago CCS, Renno ACM, Vassão PG
Arch Dermatol Res 2022 Nov;314(9):823-838. Epub 2021 Oct 5 doi: 10.1007/s00403-021-02283-2. PMID: 34609598
Zhang ZW, Wu H, Tang KF, Fan YM
An Bras Dermatol 2021 Nov-Dec;96(6):791-793. Epub 2021 Sep 27 doi: 10.1016/j.abd.2020.08.027. PMID: 34593264Free PMC Article
Levi A, Shechter R, Lapidoth M, Enk CD
Dermatology 2017;233(5):390-395. Epub 2017 Dec 7 doi: 10.1159/000481855. PMID: 29212071
Wilkin JK
Arch Dermatol 1980 May;116(5):584. PMID: 6445709

Recent systematic reviews

Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Kalantari Y, Dadkhahfar S, Etesami I
J Cosmet Dermatol 2022 Apr;21(4):1379-1392. Epub 2022 Feb 3 doi: 10.1111/jocd.14804. PMID: 35076997
Sales AFS, Pandolfo IL, de Almeida Cruz M, Parisi JR, Garcia LA, Martignago CCS, Renno ACM, Vassão PG
Arch Dermatol Res 2022 Nov;314(9):823-838. Epub 2021 Oct 5 doi: 10.1007/s00403-021-02283-2. PMID: 34609598
Reiter O, Mimouni I, Dusza S, Halpern AC, Leshem YA, Marghoob AA
J Am Acad Dermatol 2021 Sep;85(3):653-664. Epub 2019 Nov 7 doi: 10.1016/j.jaad.2019.11.008. PMID: 31706938Free PMC Article
Thomson J, Hogan S, Leonardi-Bee J, Williams HC, Bath-Hextall FJ
Cochrane Database Syst Rev 2020 Nov 17;11(11):CD003412. doi: 10.1002/14651858.CD003412.pub3. PMID: 33202063Free PMC Article

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